METTL15
Methyltransferase Like 15: A Mitochondrial 12S rRNA m4C Methyltransferase
Gene Information Card
| Symbol | METTL15 |
|---|---|
| Full Name | Methyltransferase Like 15 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p14.1 |
| NCBI Gene ID | 196074 ncbi.nlm.nih.gov/gene/196074 |
| Ensembl ID | ENSG00000176749 |
| UniProt ID | Q9H9H4 |
| OMIM ID | 617963 |
| HGNC ID | 26442 |
| Aliases | MSTP073, METT5D1, FLJ22604 |
Description
METTL15 encodes a methyltransferase that catalyzes the formation of N4-methylcytidine (m4C) at position 839 in human mitochondrial 12S rRNA. This modification is essential for proper mitochondrial ribosome assembly and function, impacting mitochondrial translation and oxidative phosphorylation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined Oxidative Phosphorylation Deficiency 43 | Deficiency in METTL15 leads to impaired mitochondrial translation and respiratory chain dysfunction. | OMIM #617963; PMID: 31130284 |
| Mitochondrial Disease | Loss-of-function variants cause mitochondrial dysfunction with neurological and muscular symptoms. | ClinVar; PMID: 31130284 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Medium |
| Skeletal Muscle | 4.8 | Medium |
| Liver | 3.1 | Low |
| Brain | 2.5 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Moderate expression |
| HeLa | 4.5 | Moderate expression |
| K562 | 3.8 | Low expression |
| HepG2 | 2.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.292C>T (p.Arg98Trp) | Missense | Rare | Loss of function; reduced m4C methylation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein production |
| c.424_425del (p.Gln142Glufs*3) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most reported METTL15 variants are loss-of-function, impairing mitochondrial 12S rRNA methylation and translation.
Gain of Function (GOF)
No gain-of-function variants have been reported.
Dominant Negative (DN)
No dominant-negative variants have been described.
View complete mutation data：
Gene Ontology (GO)
| • rRNA methyltransferase activity | • mitochondrion |
| • mitochondrial large ribosomal subunit | • RNA methylation |
| • mitochondrial translation |
Pathways
• Mitochondrial translation
• rRNA modification in mitochondria
Protein Summary
METTL15 is a mitochondrial methyltransferase that specifically modifies cytidine 839 in 12S rRNA to N4-methylcytidine. This modification is critical for the assembly and function of the mitochondrial ribosome, and its deficiency leads to combined oxidative phosphorylation deficiency and mitochondrial disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| METTL15 Knockout HEK293 Cell Line | EDJ-KQ13453 | Human | 196074 | Details Get a Quote |
| METTL15 Knockout A-549 Cell Line | EDJ-KQ44232 | Human | 196074 | Details Get a Quote |
| METTL15 Knockout HCT 116 Cell Line | EDJ-KQ44233 | Human | 196074 | Details Get a Quote |
| METTL15 Knockout HeLa Cell Line | EDJ-KQ44234 | Human | 196074 | Details Get a Quote |
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